Figure 2:SMAD4 mutations in JPS, JP/HHT and HHT patients.(A) Distribution of SMAD4 mutation database entries categorized by mutation type and phenotype
(JPS in gray, JP/HHT in black and HHT in white). (B) Number of different JPS-causing SMAD4 mutations in each exon of the SMAD4 gene. Mutations in each exon were
further classified by mutation type (see inset). Three large SMAD4 deletions, one of the entire gene and two others beginning with exon 7 and exon 8, are not shown. (C) Number of different JP/HHT-causing SMAD4 mutations in each exon of the SMAD4 gene. Mutations in each exon were further classified by mutation type (see inset).